If you have a rare disease, or know someone who does, you know it can be frustrating. Why did it take so long to get a diagnosis? Why are there so few treatment options? Where can I get help? While there are as many as 7,000 identified rare diseases around the globe, currently, treatment options are only available for a few hundred diseases.
Clinical studies for rare diseases are particularly challenging because they involve small groups of diverse patient populations. What’s more, most disease indications are poorly understood, and standard of care is routinely not available. Researchers often face numerous challenges in their efforts to advance much needed therapies.
Because of this, rare disease studies have not been as attractive to researchers as trials in more common diseases. Most rare diseases are complex and enrollment in studies tends to be slow and have higher drop-out rates, which contributes to longer development timelines and higher drug development costs. However, the focus is shifting as drug developers identify favorable regulatory pathways to approval.
Overcoming these unique barriers requires a special approach; one that listens to and understands the needs and perspectives of all stakeholders—patients, their caregivers, advocacy groups, and investigators—and incorporates their voices into the global clinical trial planning process.
Our Scott Schliebner, Vice President, Rare Diseases – Scientific Affairs shares his insights:
Poor enrollment and retention rates increase the cost of drug development and have had a profound effect on the attractiveness of clinical drug development in the rare disease space. What do you see as the major issues when it comes to enrolling and retaining rare disease patients?
We know that finding eligible patients for trials involving small patient populations and then retaining them throughout a study is a major concern for most drug developers. Rare disease trials tend to accrue fewer patients over a wider geographical area causing patients and families to travel longer distances to sites. These patients often have debilitating conditions, and many of them are children who need assistance from their caregivers to get them to site visits. Caregivers may have to take time off work and incur costs for travel, lodging, and other expenditures, which may prohibit the patient’s ability to participate. Once enrolled in a study, meeting study requirements may become extremely difficult for some families and make participation impossible causing the patient to drop out.
Patient retention in clinical trials is always a top concern for researchers. Why do you think patient drop-out rates tend to be more problematic in rare disease trials, and what do you suggest we do to improve retention rates?
It’s not always easy for patients and their caregivers to adhere to strict study protocol requirements that don’t take into account their specific needs. Historically, researchers have assessed patients’ needs after the study protocol is finalized, and investigative site staff develop recruitment plans based on their perspectives alone.
We are learning that rare disease trials require a different approach; one that considers the special needs of patients and families and makes trial participation as easy as possible. To ensure compliance and limit drop-out, drug developers must listen to their experiences, include them in the initial stages of protocol and study design, and ultimately make the study requirements less disruptive to the patients and their caregivers. It is extremely challenging to incorporate this input after the study protocol is finalized or once a study is underway.
Accelerating clinical drug development in rare diseases and getting needed therapies to market faster is a significant challenge for researchers. Knowing where a new trial fits into the current disease landscape can mean the difference between success and failure. What do drug developers need to know to effectively position a new trial in this already highly competitive clinical trial environment?
Determining how a program fits into the rare disease space is not easy and requires thorough planning. For drug developers to understand where their trial best fits, they must first understand where open studies are located, which ones are real competitors, and which ones could serve as feeder studies for a new trial. Leveraging public, private, and proprietary data sources to drive trial design, identifying the investigators who treat the most patients, and understanding treatment trends are significant. These strategies can help drug developers position their trial effectively.
There are many barriers to overcome when placing a new trial in the rare disease space. What can drug developers do to minimize these barriers and drive rare disease programs to better patient outcomes?
Our approach to rare disease drug development is evolving, and we have begun to recognize the value of input from a variety of stakeholders. These stakeholders understand the barriers patients face and can provide us with insights into minimizing them. Each stakeholder offers a different perspective. Listening to their voices and engaging them early in the study design planning, positioning trials, and engaging patients can help us to minimize potential barriers and drive clinical programs to realize better outcomes.
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